A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628990



Internal ID6669130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29691450..29693507hg38UCSC Ensembl
Innerchr12:29691450..29693507hg38UCSC Ensembl
Outerchr12:29691450..29693507hg38UCSC Ensembl
chr12:29844383..29846440hg19UCSC Ensembl
Innerchr12:29844383..29846440hg19UCSC Ensembl
Outerchr12:29844383..29846440hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg382058
hg192058
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14423455, essv14423353, essv14423798, essv14423104, essv14423447, essv14423144, essv14423141, essv14423417, essv14423401, essv14423404, essv14423613, essv14423699, essv14423816, essv14423382, essv14423222, essv14423107, essv14423068, essv14423090, essv14423147, essv14423826, essv14423569, essv14423438, essv14423241, essv14423566, essv14423526, essv14423216, essv14423362, essv14423215, essv14423327, essv14423845, essv14423501, essv14423087, essv14423065, essv14423115, essv14423538, essv14423709, essv14423806, essv14423434, essv14423217, essv14423805, essv14423772, essv14423201, essv14423518, essv14423492, essv14423086, essv14423366, essv14423258, essv14423360, essv14423246, essv14423427, essv14423385, essv14423497, essv14423550, essv14423840, essv14423301, essv14423263, essv14423606, essv14423433, essv14423135, essv14423082, essv14423817, essv14423660, essv14423595, essv14423187, essv14423474, essv14423436, essv14423159, essv14423673, essv14423208, essv14423684, essv14423252, essv14423206, essv14423530, essv14423722, essv14423181, essv14423815, essv14423667, essv14423505, essv14423456, essv14423618, essv14423560, essv14423142, essv14423620, essv14423514, essv14423415, essv14423762, essv14423162, essv14423126, essv14423380, essv14423658, essv14423507, essv14423133, essv14423276, essv14423508, essv14423720, essv14423770, essv14423510, essv14423149, essv14423702, essv14423351, essv14423463, essv14423081, essv14423642, essv14423765, essv14423654, essv14423337, essv14423843, essv14423324, essv14423098, essv14423422, essv14423650, essv14423287, essv14423801, essv14423370, essv14423749, essv14423830, essv14423764, essv14423306, essv14423788, essv14423158, essv14423148, essv14423076, essv14423430, essv14423182, essv14423823, essv14423646, essv14423110, essv14423669, essv14423121, essv14423053, essv14423342, essv14423754, essv14423096, essv14423448, essv14423483, essv14423400, essv14423632, essv14423482, essv14423381, essv14423387, essv14423311, essv14423197, essv14423302, essv14423640, essv14423117, essv14423477, essv14423194, essv14423304, essv14423839, essv14423132, essv14423776, essv14423099, essv14423780, essv14423212, essv14423196, essv14423748, essv14423116, essv14423621, essv14423151, essv14423528, essv14423114, essv14423236, essv14423444, essv14423804, essv14423309, essv14423389, essv14423145, essv14423695, essv14423761, essv14423359, essv14423504, essv14423349, essv14423101, essv14423180, essv14423125, essv14423681, essv14423670, essv14423608, essv14423214, essv14423278, essv14423179, essv14423829, essv14423358, essv14423051, essv14423626, essv14423421, essv14423596, essv14423491, essv14423515, essv14423756, essv14423827, essv14423813, essv14423685, essv14423624, essv14423607, essv14423498, essv14423645, essv14423260, essv14423525, essv14423379, essv14423412, essv14423280, essv14423712, essv14423137, essv14423128, essv14423682, essv14423429, essv14423419, essv14423157, essv14423443, essv14423332, essv14423134, essv14423767, essv14423739, essv14423247, essv14423495, essv14423254, essv14423532, essv14423188, essv14423061, essv14423356, essv14423616, essv14423346, essv14423066, essv14423740, essv14423703, essv14423383, essv14423777, essv14423256, essv14423398, essv14423665, essv14423687, essv14423408, essv14423109, essv14423542, essv14423537, essv14423089, essv14423494, essv14423793, essv14423554, essv14423200, essv14423218, essv14423846, essv14423371, essv14423420, essv14423522, essv14423468, essv14423377, essv14423205, essv14423730, essv14423384, essv14423435, essv14423779, essv14423489, essv14423641, essv14423552, essv14423452, essv14423183, essv14423802, essv14423395, essv14423609, essv14423565, essv14423322, essv14423239, essv14423575, essv14423766, essv14423063, essv14423410, essv14423072, essv14423294, essv14423524, essv14423118, essv14423820, essv14423295, essv14423726, essv14423393, essv14423549, essv14423787, essv14423790, essv14423556, essv14423469, essv14423472, essv14423706, essv14423411, essv14423625, essv14423637, essv14423564, essv14423475, essv14423075, essv14423531, essv14423269, essv14423175, essv14423751, essv14423587, essv14423350, essv14423664, essv14423769, essv14423583, essv14423841, essv14423690, essv14423339, essv14423825, essv14423745, essv14423140, essv14423698, essv14423500, essv14423341, essv14423619, essv14423199, essv14423657, essv14423668, essv14423174, essv14423796, essv14423773, essv14423085, essv14423372, essv14423593, essv14423171, essv14423080, essv14423064, essv14423234, essv14423857, essv14423290, essv14423486, essv14423163, essv14423465, essv14423856, essv14423363, essv14423488, essv14423824, essv14423605, essv14423191, essv14423431, essv14423054, essv14423529, essv14423496, essv14423457, essv14423523, essv14423331, essv14423122, essv14423511, essv14423520, essv14423367, essv14423851, essv14423679, essv14423603, essv14423534, essv14423198, essv14423286, essv14423083, essv14423268, essv14423838, essv14423545, essv14423458, essv14423636, essv14423731, essv14423713, essv14423303, essv14423138, essv14423473, essv14423152, essv14423185, essv14423812, essv14423597, essv14423499, essv14423227, essv14423546, essv14423334, essv14423232, essv14423432, essv14423373, essv14423333, essv14423223, essv14423808, essv14423289, essv14423067, essv14423314, essv14423704, essv14423461, essv14423123, essv14423628, essv14423535, essv14423166, essv14423329, essv14423602, essv14423348, essv14423580, essv14423629, essv14423551, essv14423392, essv14423579, essv14423710, essv14423273, essv14423259, essv14423592, essv14423479, essv14423325, essv14423615, essv14423849, essv14423651, essv14423758, essv14423659, essv14423693, essv14423255, essv14423557, essv14423320, essv14423516, essv14423707, essv14423195, essv14423563, essv14423678, essv14423136, essv14423604, essv14423814, essv14423291, essv14423094, essv14423156, essv14423172, essv14423630, essv14423266, essv14423106, essv14423785, essv14423590, essv14423570, essv14423768, essv14423285, essv14423752, essv14423340, essv14423310, essv14423335, essv14423238, essv14423493, essv14423594, essv14423487, essv14423694, essv14423601, essv14423440, essv14423425, essv14423445, essv14423478, essv14423663, essv14423467, essv14423378, essv14423727, essv14423807, essv14423622, essv14423078, essv14423394, essv14423413, essv14423139, essv14423055, essv14423186, essv14423464, essv14423248, essv14423450, essv14423855, essv14423744, essv14423173, essv14423449, essv14423143, essv14423103, essv14423697, essv14423319, essv14423547, essv14423441, essv14423251, essv14423466, essv14423406, essv14423312, essv14423211, essv14423485, essv14423519, essv14423336, essv14423368, essv14423402, essv14423275, essv14423633, essv14423741, essv14423210, essv14423539, essv14423416, essv14423418, essv14423833, essv14423190, essv14423426, essv14423226, essv14423627, essv14423471, essv14423153, essv14423677, essv14423717, essv14423108, essv14423414, essv14423127, essv14423229, essv14423220, essv14423598, essv14423576, essv14423555, essv14423540, essv14423453, essv14423192, essv14423691, essv14423638, essv14423407, essv14423243, essv14423548, essv14423100, essv14423057, essv14423837, essv14423369, essv14423771, essv14423224, essv14423262, essv14423062, essv14423822, essv14423178, essv14423649, essv14423521, essv14423847, essv14423800, essv14423330, essv14423755, essv14423719, essv14423701, essv14423600, essv14423293, essv14423386, essv14423794, essv14423355, essv14423193, essv14423177, essv14423077, essv14423069, essv14423573, essv14423734, essv14423317, essv14423390, essv14423459, essv14423365, essv14423725, essv14423357, essv14423732, essv14423799, essv14423750, essv14423150, essv14423221, essv14423070, essv14423715, essv14423533, essv14423708, essv14423647, essv14423610, essv14423733, essv14423718, essv14423318, essv14423696, essv14423631, essv14423747, essv14423176, essv14423155, essv14423683, essv14423728, essv14423228, essv14423244, essv14423439, essv14423119, essv14423112, essv14423743, essv14423653, essv14423097, essv14423298, essv14423292, essv14423261, essv14423700, essv14423204, essv14423582, essv14423170, essv14423783, essv14423716, essv14423585, essv14423705, essv14423284, essv14423721, essv14423859, essv14423742, essv14423676, essv14423490, essv14423480, essv14423736, essv14423442, essv14423662, essv14423437, essv14423167, essv14423809, essv14423270, essv14423165, essv14423672, essv14423688, essv14423599, essv14423502, essv14423203, essv14423343, essv14423791, essv14423354, essv14423079, essv14423129, essv14423724, essv14423189, essv14423347, essv14423428, essv14423328, essv14423484, essv14423202, essv14423810, essv14423374, essv14423617, essv14423267, essv14423405, essv14423257, essv14423299, essv14423297, essv14423409, essv14423277, essv14423084, essv14423692, essv14423250, essv14423364, essv14423154, essv14423113, essv14423675, essv14423544, essv14423316, essv14423071, essv14423052, essv14423759, essv14423056, essv14423446, essv14423536, essv14423423, essv14423305, essv14423735, essv14423345, essv14423503, essv14423375, essv14423842, essv14423095, essv14423558, essv14423344, essv14423169, essv14423454, essv14423509, essv14423786, essv14423562, essv14423272, essv14423321, essv14423249, essv14423614, essv14423288, essv14423207, essv14423858, essv14423852, essv14423648, essv14423424, essv14423105, essv14423723, essv14423643, essv14423361, essv14423656, essv14423209, essv14423235, essv14423834, essv14423738, essv14423836, essv14423376, essv14423789, essv14423661, essv14423574, essv14423245, essv14423512, essv14423059, essv14423111, essv14423265, essv14423571, essv14423091, essv14423476, essv14423388, essv14423283, essv14423714, essv14423655, essv14423568, essv14423652, essv14423281, essv14423635, essv14423774, essv14423578, essv14423559, essv14423093, essv14423831, essv14423470, essv14423819, essv14423300, essv14423844, essv14423711, essv14423130, essv14423120, essv14423818, essv14423674, essv14423513, essv14423296, essv14423102, essv14423233, essv14423231, essv14423850, essv14423639, essv14423543, essv14423323, essv14423213, essv14423225, essv14423161, essv14423821, essv14423737, essv14423050, essv14423088, essv14423775, essv14423315, essv14423160, essv14423588, essv14423240, essv14423124, essv14423397, essv14423854, essv14423644, essv14423781, essv14423074, essv14423797, essv14423282, essv14423584, essv14423168, essv14423853, essv14423146, essv14423506, essv14423666, essv14423611, essv14423591, essv14423049, essv14423803, essv14423729, essv14423517, essv14423307, essv14423792, essv14423835, essv14423264, essv14423782, essv14423680, essv14423279, essv14423561, essv14423164, essv14423757, essv14423527, essv14423541, essv14423237, essv14423572, essv14423753, essv14423589, essv14423326, essv14423586, essv14423313, essv14423848, essv14423553, essv14423577, essv14423274, essv14423623, essv14423403, essv14423242, essv14423131, essv14423686, essv14423399, essv14423338, essv14423760, essv14423689, essv14423671, essv14423460, essv14423396, essv14423271, essv14423581, essv14423253, essv14423184, essv14423832, essv14423795, essv14423811, essv14423073, essv14423778, essv14423481, essv14423567, essv14423763, essv14423746, essv14423462, essv14423092, essv14423060, essv14423451, essv14423784, essv14423391, essv14423230, essv14423828, essv14423612, essv14423308, essv14423219, essv14423058, essv14423634, essv14423352
SamplesHG00189, NA20339, HG01850, HG00650, HG01402, NA21111, NA20891, HG00608, NA18647, HG01031, HG04222, NA21099, HG03175, NA21100, HG01326, HG02419, NA18999, HG00233, HG02017, HG01486, NA18878, HG02050, HG03295, NA20864, NA19377, NA18530, HG02215, NA20863, HG02888, NA21128, HG03372, NA18633, NA19067, HG00337, HG00717, NA19089, HG01350, HG00589, NA20798, NA18995, HG02140, HG02156, NA20756, NA18993, NA18547, HG03913, NA18960, NA18916, NA18574, HG02645, HG02299, NA20768, HG01083, HG01063, HG00355, HG04070, HG01365, NA19079, HG00158, HG04033, HG02562, HG00130, HG03817, NA19720, HG00632, HG03045, HG03380, HG00406, NA21129, NA18985, HG01771, NA19025, NA20757, NA18867, HG01851, HG02134, NA12777, NA20892, NA18605, HG00731, HG01847, NA18538, HG03132, NA19070, NA19056, HG02070, HG03718, HG02380, HG01095, NA20810, HG02253, NA19043, NA19663, HG02144, HG01845, NA19081, HG03771, HG01498, NA18572, NA18948, HG01796, HG00692, NA19064, HG03823, NA18537, HG01102, NA18879, NA19084, HG00690, HG00404, HG03951, NA11893, HG00331, HG04173, HG02121, NA18532, NA19059, HG03451, NA19009, HG02256, NA18523, HG00463, HG01936, NA18531, NA12778, NA19625, NA18593, HG04093, HG02127, HG02675, HG01257, HG01858, HG00611, HG00382, NA19652, NA19434, NA18564, NA18628, NA19454, HG03949, HG03920, HG03458, HG02391, NA19010, HG01866, NA19428, NA19083, NA18943, NA20281, HG00662, NA18615, HG03103, HG02133, HG01861, NA20906, NA19328, HG02379, HG01577, HG02373, HG00478, NA19785, HG02367, HG02079, HG02116, HG03716, NA19102, NA18873, HG02291, HG02182, HG04171, HG02348, HG01794, HG00274, NA20503, NA19121, HG00595, HG02353, NA19129, NA19011, NA18624, NA20827, HG03198, NA19065, HG02406, NA19429, NA19074, HG01618, HG00581, NA18577, HG03265, HG03271, HG00593, HG00096, NA18998, HG01746, HG01441, HG00592, HG00121, NA20853, HG01054, NA19794, NA19397, HG02272, NA11995, HG01348, HG01052, NA18980, HG02648, HG02035, NA18561, NA19704, HG03057, HG01188, NA18599, HG03015, HG02275, HG01389, HG00306, NA18877, NA18603, HG04094, HG02394, NA20808, NA20346, NA19190, NA19098, NA18526, NA18962, HG01250, NA19076, HG02312, HG01503, NA18550, NA12812, HG00251, HG02151, NA18489, HG02407, HG03499, NA18595, HG02541, HG00173, NA18635, HG03937, NA20900, HG03765, HG04144, HG02620, HG01945, HG01710, HG01599, NA18942, HG01816, NA19023, HG01354, HG03911, HG03629, HG03762, HG03594, HG00590, NA19038, HG03793, HG01893, HG01134, HG02395, HG02315, HG03986, HG00106, HG01170, HG01813, NA20340, HG01527, HG04106, HG01767, HG01046, NA19075, NA19159, HG03352, HG00182, NA19026, NA20884, NA18520, NA18973, HG03369, HG00419, HG00675, HG01603, HG01136, HG03120, NA19657, HG02136, HG01360, NA19082, HG00982, NA19707, HG01384, HG04062, HG03644, HG02697, HG02236, HG00428, NA18644, NA18991, HG02076, HG01938, HG01612, HG00584, HG00500, NA18910, NA18976, HG04180, HG01852, HG02976, NA19776, HG02555, HG01777, HG01094, HG01161, HG01619, NA19000, HG00844, NA19655, HG02817, HG03078, HG02048, HG01707, HG04155, NA19001, HG01921, HG01842, HG02081, HG01705, NA19756, HG01865, HG02408, HG00445, HG01990, NA18978, HG02613, HG00476, HG04219, NA18535, NA18952, NA19749, HG02064, HG00375, HG01362, HG01253, HG00136, NA07051, HG01951, HG01205, HG03012, NA20504, NA19310, NA18591, HG03557, HG02814, HG03681, HG03019, NA21125, NA19759, NA19143, HG03432, HG00672, HG03442, HG01917, HG01028, HG02646, NA18987, NA12749, HG01783, HG00174, HG03258, HG03998, HG02410, NA18972, HG00343, NA18552, HG03538, HG00372, NA18984, NA07056, HG02861, HG01464, NA19146, HG01863, HG00759, HG00437, NA20511, NA18745, NA20882, NA20761, HG00542, NA12717, HG03484, HG00143, HG02072, HG01462, HG02385, HG01624, NA20508, HG00671, NA19066, HG00559, HG00358, NA20783, HG02375, HG02026, HG03111, NA20514, HG00766, HG00457, HG02078, HG03115, NA19350, HG02804, HG03298, NA12340, HG00449, NA20517, HG02384, HG02589, NA19443, HG01051, HG00097, NA20771, NA18988, NA18969, HG00271, NA19107, HG02792, HG00663, NA20814, NA19319, HG02105, HG01351, HG03808, HG02952, HG01277, HG00674, HG02146, HG01168, NA18923, NA18567, HG01968, HG02085, HG04182, HG01761, NA19457, NA18571, HG02054, HG00451, HG02816, HG02278, HG00867, NA20278, HG00148, HG02187, NA19372, NA11994, HG03691, NA19235, NA18748, HG00705, HG02190, NA19722, HG03814, HG00160, HG00118, NA18990, HG01198, NA18557, HG02260, HG01048, HG01133, NA20342, NA20127, HG00365, HG04075, NA20753, NA18645, HG02716, HG00443, HG03861, HG03363, HG01171, HG00282, NA18525, NA19006, HG02075, HG00332, HG00245, HG01789, NA20885, HG02678, NA19984, HG04195, NA19455, HG00556, NA20862, HG02887, HG00583, HG01941, HG01345, HG01675, HG00740, HG03967, HG00324, HG03472, NA20867, HG00651, HG02577, HG00479, HG00350, NA20581, NA19042, HG03631, HG01101, HG00140, NA19752, HG01497, NA19099, HG03969, NA19761, HG01474, NA18963, NA18570, HG02594, HG01572, NA12546, HG01956, NA19012, NA18974, NA19017, HG02660, NA19375, NA19003, HG00258, NA18632, HG02089, NA19309, HG00383, NA19390, NA19147, HG01980, HG00625, NA20276, NA19747, HG01131, HG01878, NA19072, HG01551, HG02304, NA19090, HG01396, NA20790, HG01375, HG00473, NA20792, NA20778, HG01113, HG01137, HG02317, NA19783, NA18610, HG00620, HG01086, HG02095, HG03977, HG01868, NA21102, HG02235, HG01846, NA18636, NA21093, HG00310, HG01600, NA20758, HG01468, HG02681, HG00728, NA18983, NA20502, HG01431, NA18957, HG02855, HG02778, HG02020, NA18623, NA19063, HG01805, NA20754, NA19346, NA19214, HG00553, HG00255, NA19676, NA18620, HG01516, NA18997, HG03514, HG00403, HG00881, HG03773, NA21110, NA19141, HG03366, NA19222, HG00536, HG02583, HG00524, HG01860, HG01855, HG04211, HG02318, HG00640, HG00318, HG00103, NA19057, HG03963, HG03100, HG01456, HG03297, HG00179, HG00879, HG03944, NA07357, HG03680, HG01694, HG00327, NA18967, HG03235, HG01571, NA20796, NA18944, HG01366, HG01070, HG01953, HG01682, HG04022, HG01853, HG03490, HG02491, HG01997, NA20586, HG02155, NA18982, HG03873, NA20317, NA18619, HG03905, HG02130, HG00851, HG00346, NA18642, NA12283, NA19771, NA19088, HG01510, NA19782, NA18964, HG02922, HG02786, HG02111, HG02281, NA19404, NA18970, HG01398, HG01067, NA18874, HG03268, HG03595, NA19917, HG01072, HG01281, NA19731, HG01369, HG01308, NA19385, HG03696, HG00422, NA19317, NA18986, HG01440, HG02571, HG01932, NA20845, NA19901, HG04185, HG00159, NA18975, NA18954, HG03048, HG00264, NA18648, NA18614, HG01353, HG01183, NA18544, HG03785, HG02265, NA19210, NA19437, NA18934, HG02513, HG01247, HG00328, HG02152, HG02025, NA19152, HG00190, HG01864, HG01271, NA18956, HG00701, HG04107, HG03291, NA18939, NA18516, HG00436, NA18915, HG00598, NA20506, HG02968, HG02102, HG02537, HG03124, HG02757, NA21116, NA18757, HG03021, HG01447, NA18566, HG03085, HG01311, HG01073, HG03871, NA20299, NA19774, NA19449, HG03382, HG00956, HG03476, HG02884, HG02086, HG00525, HG01286, HG00410, NA18634, HG01596, HG01992, HG02455, NA20773, HG03833, HG02807, HG01190, HG00285, NA19321, HG02223, HG01915, NA19037, HG02923, NA19773, NA19144, NA20785, HG00308, NA19334, NA19439, HG02839, HG03846, NA20516, NA19741, HG02139, NA19085, NA06986, HG01862, HG00269, NA19475, HG03084, NA20357, HG02398, HG00111, HG01491, HG03789, NA19060, HG03863, HG03049, HG02654, NA18994, HG02392, HG02462, HG02113, HG01817, HG01781, HG02186, HG02028, HG01775, NA19755, NA19758, HG02425, HG01869, HG03129, HG01923, HG01695, HG00978, HG00362, NA18562, NA18965, HG01926, HG01608
Known GenesTMTC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628990
Frequency
Sample Size2504
Observed Gain0
Observed Loss811
Observed Complex0
Frequencyn/a


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